EMA, FDA Team Up to Propose Guideline on Pediatric Gaucher Disease

Regulatory NewsRegulatory News | 15 May 2014 |  By 

US and EU regulators have come together to release an unusual joint proposal that they say will help speed up the development of new treatments affecting pediatric patients with Gaucher disease.


Gaucher disease is a rare, inherited lysosomal storage disorder which affects patients by causing the buildup of lipids in cells and organs, such as the liver, spleen, kidneys and brain. It is thought that about 20,000 patients have Type I Gaucher disease in the US, and approximately 23,000 in the EU.

Type II patients most often die in infancy, and represent about 8% of all cases. Type III patients represent a chronic, neuronopathic form of the disease, and account for about 22% of all cases.

Need for a New Guideline

As the US Food and Drug Administration (FDA) and European Medicines Agency (EMA) explain in a new regulatory and procedural guideline, while the "underlying biology" of the disease is the same in both adults and children, the disease presents different symptoms in children.

"Overall, age at onset of symptoms correlates with symptom severity, with a poorer outcome in those who are symptomatic at a very young age," the two regulators wrote. "This is primarily linked to a lower residual level of enzyme activity resulting in a greater severity in childhood."

And despite treatment advances in recent years, including a new drug (Elelyso) approved by FDA in 2012, regulators say unmet needs still exist, and in particular for pediatric patients. Administering existing treatments to these patients can be painful, and regulators said the "overall treatment burden is challenging." In addition, not all treatment regimens are backed by pediatric data, making dosing and administration inexact and potentially less effective than for adult patients.

Collaborative Approach

To remedy this, FDA and EMA say they have developed a "strategic collaborative pediatric approach" that they hope will make it easier to demonstrate the efficacy and safety of treatments in pediatric patients with Gaucher disease (Types I and III).

For example, sponsors of new therapies will be able to extrapolate efficacy data for pediatric patients so as to avoid unnecessary studies—"for ethical reasons," they added. Such an extrapolation should be based on extensive scientific data from in vitro, preclinical and clinical studies, the regulators explained. However, not all disease states will be eligible for extrapolation, such as those known to affect children differently.

In addition, the guideline proposed the use of multi-arm, multi-company trials. This would allow for the simultaneous testing of multiple experimental therapies.

The design and proposed inclusion criteria, exclusion criteria, dosing and endpoints are also described in the guideline.

Comments are due to EMA by 31 August 2014.


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